Arx^tm4Kki
Targeted Allele Detail

Summary

• Symbol: Arx^tm4Kki
• Name: aristaless related homeobox; targeted mutation 4, Kunio Kitamura
• MGI ID: MGI:4359177
• Synonyms: Arx^330ins(GCG7), Arx^E, Arx^Expanded, Arx^(GCG)7, Arx^tm(GCG)Kki
• Gene: Arx Location: ChrX:92330113-92341963 bp, + strand Genetic Position: ChrX, 41.05 cM
• Alliance: Arx^tm4Kki page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:152416
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide repeat expansion
• Mutation details: Exon 2 was replaced with one in which coding nucleotide 330 (C), the third base of alanine codon 110 in the middle of the first poly-alanine stretch, was replaced with a G and had seven GCG alanine codons inserted after it (c.330C>GGCGGCGGCGGCGGCGGCGGCG). The resulting protein mutation (p.(A110_A111delinsAAAAAAAAA)) mimics a muation found in some X-linked mental retardation patients. A neomycin resistance gene cassette was inserted in to intron 1. (J:152416)

Disease models

Expression

In Mice Carrying this Mutation:	65 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 5 strains available Cell Lines: 0 lines available
• Carrying any Arx Mutation: 20 strains or lines available

References

• Original: J:152416 Kitamura K, et al., Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum Mol Genet. 2009 Oct 1;18(19):3708-24
• All: 12 reference(s)